"GeneDx"[submitter] AND "ITGA3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 1232560	NC_000017.11:g.50055728AGC[5]	ITGA3, PICART1	Microsatellite	not provided	GBenign
Select item 1266986	NC_000017.11:g.50055746_50055748dup	ITGA3	Duplication	not provided	GBenign
Select item 1234612	NC_000017.11:g.50055923del	ITGA3	Deletion	not provided	GBenign
Select item 1245724	NC_000017.11:g.50055949A>C	ITGA3	Single nucleotide variant	not provided	GBenign
Select item 1219843	NC_000017.11:g.50056003G>A	ITGA3	Single nucleotide variant	not provided	GLikely benign
Select item 1253387	NC_000017.11:g.50056099G>C	ITGA3, LOC130061140	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1179289	NM_002204.4(ITGA3):c.-148G>A	ITGA3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1200358	NM_002204.4(ITGA3):c.206+213T>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223770	NM_002204.4(ITGA3):c.206+281C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242445	NM_002204.4(ITGA3):c.207-107G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202007	NM_002204.4(ITGA3):c.334+98C>T	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199994	NM_002204.4(ITGA3):c.334+150T>C	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215773	NM_002204.4(ITGA3):c.335-161G>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253863	NM_002204.4(ITGA3):c.335-30T>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784360	NM_002204.4(ITGA3):c.399T>C (p.Pro133=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1244792	NM_002204.4(ITGA3):c.414+38C>T	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254791	NM_002204.4(ITGA3):c.414+89G>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253572	NM_002204.4(ITGA3):c.415-326C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230802	NM_002204.4(ITGA3):c.415-151G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305507	NM_002204.4(ITGA3):c.547G>A (p.Glu183Lys)	ITGA3 (E183K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278153	NM_002204.4(ITGA3):c.664+115G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196225	NM_002204.4(ITGA3):c.664+224C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196092	NM_002204.4(ITGA3):c.664+237C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 768897	NM_002204.4(ITGA3):c.687C>T (p.Arg229=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1253869	NM_002204.4(ITGA3):c.751+35A>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232647	NM_002204.4(ITGA3):c.751+119G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194522	NM_002204.4(ITGA3):c.751+128G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268937	NM_002204.4(ITGA3):c.751+162A>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 818042	NM_002204.4(ITGA3):c.864_867del (p.Gly289fs)	ITGA3 (G289fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2443563	NM_002204.4(ITGA3):c.902C>T (p.Ser301Leu)	ITGA3 (S301L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1187667	NM_002204.4(ITGA3):c.959+233G>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271410	NM_002204.4(ITGA3):c.996C>T (p.Phe332=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783785	NM_002204.4(ITGA3):c.1113A>T (p.Leu371Phe)	ITGA3 (L371F)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 789230	NM_002204.4(ITGA3):c.1157-9C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1271172	NM_002204.4(ITGA3):c.1230T>C (p.Leu410=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714736	NM_002204.4(ITGA3):c.1382+3G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1198478	NM_002204.4(ITGA3):c.1383-56C>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3252134	NM_002204.4(ITGA3):c.1388G>A (p.Arg463Gln)	ITGA3 (R463Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 518262	NM_002204.4(ITGA3):c.1469+10T>C	ITGA3	Single nucleotide variant (intron variant)	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign
Select item 1178269	NM_002204.4(ITGA3):c.1469+78C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194541	NM_002204.4(ITGA3):c.1470-26C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1312617	NM_002204.4(ITGA3):c.1470-11C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1272935	NM_002204.4(ITGA3):c.1674+117A>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300799	NM_002204.4(ITGA3):c.1674+174G>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1311807	NM_002204.4(ITGA3):c.1802A>G (p.Gln601Arg)	ITGA3 (Q601R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197860	NM_002204.4(ITGA3):c.1824+37G>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219158	NM_002204.4(ITGA3):c.1824+38C>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279016	NM_002204.4(ITGA3):c.1825-24T>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770642	NM_002204.4(ITGA3):c.1829A>C (p.Gln610Pro)	ITGA3 (Q610P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2580628	NM_002204.4(ITGA3):c.1866G>C (p.Glu622Asp)	ITGA3 (E622D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254295	NM_002204.4(ITGA3):c.1923-122C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177877	NM_002204.4(ITGA3):c.1923-54C>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230811	NM_002204.4(ITGA3):c.1923-48T>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334379	NM_002204.4(ITGA3):c.1994G>A (p.Arg665His)	ITGA3 (R665H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1195297	NM_002204.4(ITGA3):c.2046C>T (p.Ala682=)	ITGA3	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 1228564	NM_002204.4(ITGA3):c.2071-126C>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189874	NM_002204.4(ITGA3):c.2071-75G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248619	NM_002204.4(ITGA3):c.2140-135A>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237071	NM_002204.4(ITGA3):c.2155G>A (p.Ala719Thr)	ITGA3 (A719T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1311930	NM_002204.4(ITGA3):c.2200G>A (p.Val734Met)	ITGA3 (V734M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326435	NM_002204.4(ITGA3):c.2297+64C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247477	NM_002204.4(ITGA3):c.2297+123C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246144	NM_002204.4(ITGA3):c.2297+153A>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248708	NM_002204.4(ITGA3):c.2297+255del	ITGA3	Deletion (intron variant)	not provided	GBenign
Select item 1227683	NM_002204.4(ITGA3):c.2297+261=	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187957	NM_002204.4(ITGA3):c.2298-29C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708150	NM_002204.4(ITGA3):c.2326G>T (p.Gly776Trp)	ITGA3 (G776W)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 817532	NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter)	ITGA3 (R875*)	Single nucleotide variant (nonsense)	Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely pathogenic
Select item 1257402	NM_002204.4(ITGA3):c.2707-223A>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240486	NM_002204.4(ITGA3):c.2707-125A>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262060	NM_002204.4(ITGA3):c.2707-18G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269919	NM_002204.4(ITGA3):c.2820+88_2820+89dup	ITGA3	Duplication (intron variant)	not provided	GBenign
Select item 1698081	NM_002204.4(ITGA3):c.2820+89GT[22]	ITGA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1283642	NM_002204.4(ITGA3):c.2820+89GT[18]	ITGA3	Microsatellite (intron variant)	not provided	GBenign
Select item 1255200	NM_002204.4(ITGA3):c.2820+89GT[16]	ITGA3	Microsatellite (intron variant)	not provided	GBenign
Select item 1218625	NM_002204.4(ITGA3):c.2820+89GT[19]	ITGA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1214022	NM_002204.4(ITGA3):c.2820+89GT[17]	ITGA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1183845	NM_002204.4(ITGA3):c.2820+89GT[20]	ITGA3	Microsatellite (intron variant)	not provided	GBenign
Select item 1279136	NM_002204.4(ITGA3):c.2820+130T>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227472	NM_002204.4(ITGA3):c.2820+131_2820+132insTGAG	ITGA3	Insertion (intron variant)	not provided	GBenign
Select item 1203712	NM_002204.4(ITGA3):c.2820+131_2820+132dup	ITGA3	Duplication (intron variant)	not provided	GLikely benign
Select item 1187267	NM_002204.4(ITGA3):c.2820+131_2820+132insTGTGAG	ITGA3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1274206	NM_002204.4(ITGA3):c.2820+154G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282416	NM_002204.4(ITGA3):c.2820+182A>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231762	NM_002204.4(ITGA3):c.2820+310T>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195710	NM_002204.4(ITGA3):c.2821-202G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278148	NM_002204.4(ITGA3):c.2821-193G>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226546	NM_002204.4(ITGA3):c.2821-85del	ITGA3	Deletion (intron variant)	not provided	GBenign
Select item 1193275	NM_002204.4(ITGA3):c.2827A>G (p.Arg943Gly)	ITGA3 (R943G)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1270208	NM_002204.4(ITGA3):c.2832C>T (p.Asp944=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1255004	NM_002204.4(ITGA3):c.2919+71G>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312618	NM_002204.4(ITGA3):c.2920-77G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287901	NM_002204.4(ITGA3):c.2920-44T>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189729	NM_002204.4(ITGA3):c.2920-12T>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 770643	NM_002204.4(ITGA3):c.2960C>G (p.Pro987Arg)	ITGA3 (P987R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1282548	NM_002204.4(ITGA3):c.3045+137A>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265340	NM_002204.4(ITGA3):c.3045+152T>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273342	NM_002204.4(ITGA3):c.3046-170C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301132	NM_002204.4(ITGA3):c.3046-35C>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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